Publication An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.
Publication The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.
Publication 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Publication Severe subacute necrotizing encephalopathy (Leigh-like syndrome) in American Staffordshire bull terrier dogs.
Publication Do body mass index and waist-to-height ratio over the preceding decade predict retinal microvasculature in 11-12 year olds and midlife adults?
Publication Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian Disease.
